S11G (p.Ser11Gly) variant of JMJD4 (Q9H9V9)
S11G (p.Ser11Gly) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S11G (p.Ser11Gly) variant details
- p.Ser11Gly
- 1000Genomes rs1218631147
- gnomAD rs1218631147
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -0.98
- CADD 11.51
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available